Etiology
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Orphanet J Rare Dis
2022 Oct 1;17(1):369.
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PMID: 36183078Free PMC Article
Zalewski CK,
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Bianconi S,
Dang Do A,
Porter FD,
Brewer CC
Am J Med Genet A
2021 Apr;185(4):1131-1141.
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Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
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PMID: 32349000
Ebrahimi-Fakhari D,
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2016 Feb;139(Pt 2):317-37.
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Genet Med
2011 Aug;13(8):697-707.
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Diagnosis
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
doi: 10.1159/000506770.
PMID: 32349000
Salen G,
Steiner RD
J Inherit Metab Dis
2017 Nov;40(6):771-781.
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doi: 10.1007/s10545-017-0093-8.
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Reuter MS,
Tawamie H,
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Hosny Gebril O,
Froukh T,
Thiel C,
Uebe S,
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Krumbiegel M,
Zweier C,
Hoyer J,
Eberlein K,
Bauer J,
Scheller U,
Strom TM,
Hoffjan S,
Abdelraouf ER,
Meguid NA,
Abboud A,
Al Khateeb MA,
Fakher M,
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Ismael A,
Muhammad S,
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2017 Mar 1;74(3):293-299.
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van Karnebeek CD,
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Pediatr Neurol
2016 Jun;59:6-12.
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Mitchell JJ,
Trakadis YJ,
Scriver CR
Genet Med
2011 Aug;13(8):697-707.
doi: 10.1097/GIM.0b013e3182141b48.
PMID: 21555948
Therapy
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
doi: 10.1159/000506770.
PMID: 32349000
Salen G,
Steiner RD
J Inherit Metab Dis
2017 Nov;40(6):771-781.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0093-8.
PMID: 28980151
Mitchell JJ,
Trakadis YJ,
Scriver CR
Genet Med
2011 Aug;13(8):697-707.
doi: 10.1097/GIM.0b013e3182141b48.
PMID: 21555948
Matern D,
He M,
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Rinaldo P,
Whitley CB,
Madsen PP,
van Calcar SC,
Lussky RC,
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Pediatrics
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J Inherit Metab Dis
1996;19(4):452-62.
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PMID: 8884569
Prognosis
Bayat A,
de Valles-Ibáñez G,
Pendziwiat M,
Knaus A,
Alt K,
Biamino E,
Bley A,
Calvert S,
Carney P,
Caro-Llopis A,
Ceulemans B,
Cousin J,
Davis S,
des Portes V,
Edery P,
England E,
Ferreira C,
Freeman J,
Gener B,
Gorce M,
Heron D,
Hildebrand MS,
Jezela-Stanek A,
Jouk PS,
Keren B,
Kloth K,
Kluger G,
Kuhn M,
Lemke JR,
Li H,
Martinez F,
Maxton C,
Mefford HC,
Merla G,
Mierzewska H,
Muir A,
Monfort S,
Nicolai J,
Norman J,
O'Grady G,
Oleksy B,
Orellana C,
Orec LE,
Peinhardt C,
Pronicka E,
Rosello M,
Santos-Simarro F,
Schwaibold EMC,
Stegmann APA,
Stumpel CT,
Szczepanik E,
Terczyńska I,
Thevenon J,
Tzschach A,
Van Bogaert P,
Vittorini R,
Walsh S,
Weckhuysen S,
Weissman B,
Wolfe L,
Reymond A,
De Nittis P,
Poduri A,
Olson H,
Striano P,
Lesca G,
Scheffer IE,
Møller RS,
Sadleir LG
Epilepsia
2022 Apr;63(4):974-991.
Epub 2022 Feb 18
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PMID: 35179230
Abusrair A,
AlHamoud I,
Bohlega S
J Clin Neurophysiol
2022 Sep 1;39(6):504-509.
Epub 2020 Dec 30
doi: 10.1097/WNP.0000000000000811.
PMID: 33417382
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
doi: 10.1159/000506770.
PMID: 32349000
Poke G,
King C,
Muir A,
de Valles-Ibáñez G,
Germano M,
Moura de Souza CF,
Fung J,
Chung B,
Fung CW,
Mignot C,
Ilea A,
Keren B,
Vermersch AI,
Davis S,
Stanley T,
Moharir M,
Kannu P,
Shao Z,
Malerba N,
Merla G,
Mefford HC,
Scheffer IE,
Sadleir LG
Epilepsia
2019 Nov;60(11):e121-e127.
Epub 2019 Oct 20
doi: 10.1111/epi.16372.
PMID: 31631344
Salen G,
Steiner RD
J Inherit Metab Dis
2017 Nov;40(6):771-781.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0093-8.
PMID: 28980151
Clinical prediction guides
Langhammer F,
Maroofian R,
Badar R,
Gregor A,
Rochman M,
Ratliff JB,
Koopmans M,
Herget T,
Hempel M,
Kortüm F,
Heron D,
Mignot C,
Keren B,
Brooks S,
Botti C,
Ben-Zeev B,
Argilli E,
Sherr EH,
Gowda VK,
Srinivasan VM,
Bakhtiari S,
Kruer MC,
Salih MA,
Kuechler A,
Muller EA,
Blocker K,
Kuismin O,
Park KL,
Kochhar A,
Brown K,
Ramanathan S,
Clark RD,
Elgizouli M,
Melikishvili G,
Tabatadze N,
Stark Z,
Mirzaa GM,
Ong J,
Grasshoff U,
Bevot A,
von Wintzingerode L,
Jamra RA,
Hennig Y,
Goldenberg P,
Al Alam C,
Charif M,
Boulouiz R,
Bellaoui M,
Amrani R,
Al Mutairi F,
Tamim AM,
Abdulwahab F,
Alkuraya FS,
Khouj EM,
Alvi JR,
Sultan T,
Hashemi N,
Karimiani EG,
Ashrafzadeh F,
Imannezhad S,
Efthymiou S,
Houlden H,
Sticht H,
Zweier C
Genet Med
2023 Aug;25(8):100885.
Epub 2023 May 8
doi: 10.1016/j.gim.2023.100885.
PMID: 37165955
Bayat A,
de Valles-Ibáñez G,
Pendziwiat M,
Knaus A,
Alt K,
Biamino E,
Bley A,
Calvert S,
Carney P,
Caro-Llopis A,
Ceulemans B,
Cousin J,
Davis S,
des Portes V,
Edery P,
England E,
Ferreira C,
Freeman J,
Gener B,
Gorce M,
Heron D,
Hildebrand MS,
Jezela-Stanek A,
Jouk PS,
Keren B,
Kloth K,
Kluger G,
Kuhn M,
Lemke JR,
Li H,
Martinez F,
Maxton C,
Mefford HC,
Merla G,
Mierzewska H,
Muir A,
Monfort S,
Nicolai J,
Norman J,
O'Grady G,
Oleksy B,
Orellana C,
Orec LE,
Peinhardt C,
Pronicka E,
Rosello M,
Santos-Simarro F,
Schwaibold EMC,
Stegmann APA,
Stumpel CT,
Szczepanik E,
Terczyńska I,
Thevenon J,
Tzschach A,
Van Bogaert P,
Vittorini R,
Walsh S,
Weckhuysen S,
Weissman B,
Wolfe L,
Reymond A,
De Nittis P,
Poduri A,
Olson H,
Striano P,
Lesca G,
Scheffer IE,
Møller RS,
Sadleir LG
Epilepsia
2022 Apr;63(4):974-991.
Epub 2022 Feb 18
doi: 10.1111/epi.17173.
PMID: 35179230
Zalewski CK,
Sydlowski SA,
King KA,
Bianconi S,
Dang Do A,
Porter FD,
Brewer CC
Am J Med Genet A
2021 Apr;185(4):1131-1141.
Epub 2021 Feb 2
doi: 10.1002/ajmg.a.62087.
PMID: 33529473Free PMC Article
Manti F,
Nardecchia F,
Banderali G,
Burlina A,
Carducci C,
Carducci C,
Donati MA,
Gueraldi D,
Paci S,
Pochiero F,
Porta F,
Ortolano R,
Rovelli V,
Schiaffino MC,
Spada M,
Blau N,
Leuzzi V
Mol Genet Metab
2020 Sep-Oct;131(1-2):155-162.
Epub 2020 Jun 24
doi: 10.1016/j.ymgme.2020.06.009.
PMID: 32651154
Poke G,
King C,
Muir A,
de Valles-Ibáñez G,
Germano M,
Moura de Souza CF,
Fung J,
Chung B,
Fung CW,
Mignot C,
Ilea A,
Keren B,
Vermersch AI,
Davis S,
Stanley T,
Moharir M,
Kannu P,
Shao Z,
Malerba N,
Merla G,
Mefford HC,
Scheffer IE,
Sadleir LG
Epilepsia
2019 Nov;60(11):e121-e127.
Epub 2019 Oct 20
doi: 10.1111/epi.16372.
PMID: 31631344